MCID: SYN001
MIFTS: 49

Syndactyly malady

Categories: Genetic diseases, Bone diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Syndactyly

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Aliases & Descriptions for Syndactyly:

Name: Syndactyly 11 13 25 48 37
Chromosome 2q35 Duplication Syndrome 11
Syndactyly, Type I 66
 
Webbing of Digits 11
Symphalangism 11
Symphalangy 11

Classifications:



External Ids:

Disease Ontology11 DOID:11193
ICD1028 Q70, Q70.9
ICD9CM30 755.1
MeSH37 D013576
NCIt43 C87125

Summaries for Syndactyly

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Wikipedia:69 Syndactyly (from Greek συν- meaning \"together\" and δακτυλος meaning \"finger\") is a... more...

MalaCards based summary: Syndactyly, also known as chromosome 2q35 duplication syndrome, is related to syndactyly, type v and brachydactyly-syndactyly syndrome. An important gene associated with Syndactyly is HOXD13 (Homeobox D13), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Disease Ontology:11 A synostosis that results in the fusion of two or more digits.

Related Diseases for Syndactyly

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Diseases in the Syndactyly family:

Syndactyly, Type V Syndactyly, Type Iii
Syndactyly, Type Iv Syndactyly Type 6

Diseases related to Syndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 233)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly, type v33.9HOXD11, HOXD13
2brachydactyly-syndactyly syndrome33.5HOXD11, HOXD13
3apert syndrome32.4FGFR2, FGFR3
4ablepharon-macrostomia syndrome28.7FRAS1, FREM2
5hypertrophic cardiomyopathy28.2BHLHA9, FGFR2, FGFR3, GLI3, LRP4, NOG
6syndactyly, type iii12.3
7syndactyly, type iv12.3
8syndactyly, mesoaxial synostotic, with phalangeal reduction12.2
9cenani-lenz syndactyly syndrome12.1
10ectodermal dysplasia-syndactyly syndrome 112.0
11syndactyly type 612.0
12syndactyly type 1 with cataracts and mental retardation11.9
13syndactyly-polydactyly-earlobe syndrome11.9
14ectodermal dysplasia-syndactyly syndrome 211.8
15blepharophimosis with ptosis, syndactyly, and short stature11.8
16star syndrome11.8
17synpolydactyly11.8
18aphalangia, partial, with syndactyly and duplication of metatarsal iv11.8
19eyebrows, duplication of, with stretchable skin and syndactyly11.8
20ectodermal dysplasia mental retardation syndactyly11.8
21coronal synostosis, syndactyly and jejunal atresia11.8
22craniosynostosis, philadelphia type11.8
23cleft lip palate oligodontia syndactyly pili torti11.7
24hydrops ectrodactyly syndactyly11.7
25sclerocornea, syndactyly, ambiguous genitalia11.7
26syndactyly cataract mental retardation11.7
27syndactyly ectodermal dysplasia cleft lip palate hand foot11.7
28tricho odonto onychodysplasia syndactyly dominant type11.7
29autosomal dominant trichoodontoonychodysplasia-syndactyly11.7
30ptosis-syndactyly-learning difficulties syndrome11.7
31fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome11.7
32timothy syndrome11.6
33filippi syndrome11.5
34synpolydactyly, type ii11.4
35fraser syndrome11.4
36zygodactyly 111.4
37poland syndrome11.4
38saethre-chotzen syndrome11.3
39cleft lip/palate-ectodermal dysplasia syndrome11.3
40zygodactyly type 211.2
41zygodactyly type 311.2
42zygodactyly type 411.2
43sclerosteosis11.2
44sclerosteosis 111.2
45greig cephalopolysyndactyly syndrome11.1
46metacarpal 4-5 fusion11.1
47zlotogora syndrome11.0
48microphthalmia with limb anomalies11.0
49anophthalmos with limb anomalies11.0
50acropectoral syndrome10.9

Graphical network of the top 20 diseases related to Syndactyly:



Diseases related to syndactyly

Symptoms for Syndactyly

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Drugs & Therapeutics for Syndactyly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
2Study of Skeletal Disorders and Short StatureCompletedNCT00001754
3Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877
4Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital CompressionRecruitingNCT02548260
5Syndactyly Repair: Comparison of Skin Graft and No Skin Graft TechniquesActive, not recruitingNCT01416090

Search NIH Clinical Center for Syndactyly


Cochrane evidence based reviews: syndactyly

Genetic Tests for Syndactyly

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Genetic tests related to Syndactyly:

id Genetic test Affiliating Genes
1 Syndactyly25

Anatomical Context for Syndactyly

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MalaCards organs/tissues related to Syndactyly:

34
Skin, Bone, Eye, Testes, Kidney

Animal Models for Syndactyly or affiliated genes

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MGI Mouse Phenotypes related to Syndactyly:

39 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3FGFR2, FGFR3, FREM2, GJA1, GLI3, NOG
2MP:00053817.8FGFR2, FGFR3, FRAS1, GLI3, HOXD13, NOG
3MP:00030127.6FBXW4, FGFR2, FGFR3, FRAS1, GJA1, GLI3
4MP:00053807.3FBXW4, FGFR2, FREM2, GJA1, GLI3, HOXD13
5MP:00053827.0FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
6MP:00053886.9FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
7MP:00107716.8FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
8MP:00053916.8FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
9MP:00053846.8BHLHA9, FGFR2, FGFR3, FRAS1, GJA1, GLI3
10MP:00053896.7FGFR2, FGFR3, FREM2, GJA1, GLI3, HOXD11
11MP:00053676.1FGFR2, FGFR3, FRAS1, FREM2, GLI3, HOXD11
12MP:00053786.0FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
13MP:00053905.2FBXW4, FGFR2, FGFR3, FRAS1, FREM2, GJA1
14MP:00107685.1FAM58A, FBXW4, FGFR2, FGFR3, FRAS1, FREM2
15MP:00053714.7BHLHA9, FBXW4, FGFR2, FGFR3, FRAS1, FREM2

Publications for Syndactyly

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Articles related to Syndactyly:

(show top 50)    (show all 459)
idTitleAuthorsYear
1
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. (26882209)
2016
2
Linear Separation of Toe Syndactyly With Preserved Subcutaneous Vascular Network Skin Grafts. (27404473)
2016
3
"A picture says a thousand words" - Novel teaching model for interdigitating flaps in syndactyly. (27423251)
2016
4
Dorsal plane-shaped advancement flap for the reconstruction of web space in syndactyly without skin grafting: A preliminary report. (26190763)
2015
5
Preoperative electrocardiograms for nonsyndromic children with hand syndactyly. (25542431)
2015
6
A toe keloid after syndactyly release treated with surgical excision and intralesional steroid injection. (25426369)
2014
7
The epidemiology, genetics and future management of syndactyly. (22448207)
2012
8
A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8). (21915623)
2011
9
Correction of syndactyly using a dorsal separated V-Y advancement flap and a volar triangular flap in adults. (21301304)
2011
10
Radial longitudinal deficiencies with hypoplastic/absent thumbs and cutaneous syndactyly of the most radial digits. (20807627)
2010
11
Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3. (19221800)
2009
12
Syndactyly lethal: new mutation with multiple malformations occurring in Sprague Dawley rats. (20021486)
2009
13
Acquired syndactyly in epidermolysis bullosa dystrophica. (21691395)
2009
14
Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice. (18729207)
2008
15
An 8-month-old boy with cleft palate, microcephaly, developmental delay, and syndactyly. Smith-Lemili-Opitz syndrome. (17515167)
2007
16
Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4). (17319939)
2007
17
Macrodactyly, syndactyly, and localized gigantism of the forefoot. A case report. (16878777)
2005
18
Contrary intermittent skin release of complete syndactyly without skin graft in adults. (16186698)
2005
19
Acquired syndactyly secondary to acrodermatitis continua of Hallopeau. (15888186)
2005
20
The possible association between the combination of vaginal metronidazole and miconazole treatment and poly-syndactyly Population-based case-control teratologic study. (15808791)
2005
21
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. (15194949)
2004
22
Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. (10735635)
2000
23
Roles for laminin in embryogenesis: exencephaly, syndactyly, and placentopathy in mice lacking the laminin alpha5 chain. (9852162)
1998
24
Concomitant syndactyly and polydactyly in a pediatric foot. (9127221)
1997
25
Identity-by-descent mapping of recessive traits in livestock: application to map the bovine syndactyly locus to chromosome 15. (8796345)
1996
26
An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. (8818947)
1996
27
Prenatal detection of the separation of the great toe, toe syndactyly, and large bilateral choroid plexus cysts in a fetus with trisomy 18. (8724719)
1996
28
A new form of long QT syndrome associated with syndactyly. (7798527)
1995
29
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder. (7717420)
1995
30
Surgical management of syndactyly in a dog. (7890572)
1994
31
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia. (8116666)
1994
32
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? (8074153)
1994
33
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. (8110413)
1993
34
Nonadjacent syndactyly in the congenital constriction band syndrome. (1311343)
1992
35
The double opposing palmar flaps in complex syndactyly. (1331228)
1992
36
Surgical method for treatment of syndactyly with osseous fusion of the distal phalanges. (1845781)
1991
37
Syndactyly: can web creep be avoided? (2164075)
1990
38
Syndactyly: a review of the factors which influence surgical treatment. (2545804)
1989
39
Evaluation of the operative treatment of syndactyly. (229155)
1979
40
Syndactyly and split hand. Supplement. (213354)
1978
41
A family with syndactyly type II (synpolydactyly). (199388)
1977
42
Cryptophthalmos with syndactyly. (200557)
1977
43
An operation for syndactyly, and its results. (185638)
1976
44
Cryptophthalmos-syndactyly syndrome case report. (181321)
1976
45
Management of burn syndactyly. (4367128)
1974
46
Macrodactyly of the foot: surgical syndactyly after wedge resection. (4829650)
1974
47
Micrognathia, hypodontia and syndactyly. (4375510)
1971
48
Mandibulo-facial dysostosis with syndactyly. (4319056)
1970
49
Osteopetrosis with syndactyly; a morphological variant of Albers-SchAPnberg's disease. (13539104)
1958
50
Unusual Form of Syndactyly. (19983292)
1923

Variations for Syndactyly

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Copy number variations for Syndactyly from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11420962219500000222200000DuplicationIHHSyndactyly

Expression for genes affiliated with Syndactyly

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Search GEO for disease gene expression data for Syndactyly.

Pathways for genes affiliated with Syndactyly

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Pathways related to Syndactyly according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1GJA1, NOG, TP63

GO Terms for genes affiliated with Syndactyly

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Biological processes related to Syndactyly according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:006052710.7FGFR2, HOXD13
2embryonic digestive tract morphogenesisGO:004855710.6FGFR2, GLI3
3gland morphogenesisGO:002261210.6FGFR2, HOXD13
4regulation of branching involved in prostate gland morphogenesisGO:006068710.6FGFR2, HOXD13
5limb morphogenesisGO:003510810.5GLI3, HOXD13
6anatomical structure developmentGO:004885610.5GLI3, LRP4
7squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.5FGFR2, TP63
8hair follicle morphogenesisGO:003106910.3FGFR2, TP63
9positive regulation of phospholipase activityGO:001051810.2FGFR2, FGFR3
10negative regulation of cardiac muscle cell proliferationGO:006004410.1GJA1, NOG
11positive regulation of mesenchymal cell proliferationGO:000205310.0FBXW4, FGFR2, TP63
12mesenchymal cell differentiationGO:004876210.0FGFR2, NOG
13prostatic bud formationGO:00605139.9NOG, TP63
14positive regulation of osteoblast differentiationGO:00456699.9GJA1, GLI3, TP63
15morphogenesis of an epitheliumGO:00020099.8FRAS1, FREM2
16proximal/distal pattern formationGO:00099549.8GLI3, LRP4, TP63
17odontogenesis of dentin-containing toothGO:00424759.8GLI3, LRP4, TP63
18positive regulation of MAPK cascadeGO:00434109.8FAM58A, FGFR2, FGFR3
19cell communicationGO:00071549.6FRAS1, FREM2, GJA1
20in utero embryonic developmentGO:00017019.4FGFR2, GJA1, GLI3, NOG
21anatomical structure formation involved in morphogenesisGO:00486469.2GLI3, NOG, TP63
22limb developmentGO:00601739.2FBXW4, GLI3, LRP4, NOG
23pattern specification processGO:00073899.1GLI3, HOXD13, NOG, TP63
24skeletal system developmentGO:00015018.8FGFR3, HOXD13, NOG, TP63
25embryonic limb morphogenesisGO:00303268.6FBXW4, FRAS1, GLI3, HOXD13, LRP4, TP63
26embryonic digit morphogenesisGO:00427338.5FBXW4, GJA1, GLI3, HOXD13, LMBR1, LRP4
27dorsal/ventral pattern formationGO:00099538.4GLI3, HOXD11, LRP4, NOG
28positive regulation of transcription from RNA polymerase II promoterGO:00459448.3FAM58A, FGFR2, GLI3, HOXD13, NOG, TP63

Molecular functions related to Syndactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:000500710.0FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.7FGFR2, FGFR3

Sources for Syndactyly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet